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Quoted phrase not found in phrase index: "Skeletal defects, genital hypoplasia, and intellectual disability"
Page 1
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW. Magoulas PL, et al. Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Orphanet J Rare Dis. 2012. PMID: 22216833 Free PMC article. Review.
Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anter …
Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is …
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Yabumoto M, et al. Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14. Mol Genet Genomic Med. 2021. PMID: 34519438 Free PMC article.
These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. ...
These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, c …
Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.
Wada T, Ban H, Matsufuji M, Okamoto N, Enomoto K, Kurosawa K, Aida N. Wada T, et al. AJNR Am J Neuroradiol. 2013 Oct;34(10):2034-8. doi: 10.3174/ajnr.A3560. Epub 2013 May 16. AJNR Am J Neuroradiol. 2013. PMID: 23681356 Free PMC article.
BACKGROUND AND PURPOSE: X-linked alpha-thalassemia/mental retardation syndrome (Mendelian Inheritance in Man, 301040) is one of the X-linked intellectual disability syndromes caused by mutations of the ATRX gene and characterized by male predominance, central hypoto …
BACKGROUND AND PURPOSE: X-linked alpha-thalassemia/mental retardation syndrome (Mendelian Inheritance in Man, 301040) is one of the X-linked …
The XXXXY sex chromosome abnormality.
BARR ML, CARR DH, POZSONYI J, WILSON RA, DUNN HG, JACOBSON TS, MILLER JR, LEWIS M, CHOWN B. BARR ML, et al. Can Med Assoc J. 1962 Oct 27;87(17):891-901. Can Med Assoc J. 1962. PMID: 13969480 Free PMC article.
The data obtained from the study of these cases and five others described in the literature suggest that the XXXXY patient is likely to have congenital defects not usually seen in the common form of the Klinefelter syndrome. These include a triad of (1) skeletal ano …
The data obtained from the study of these cases and five others described in the literature suggest that the XXXXY patient is likely to have …
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
Tucci A, Ronzoni L, Arduino C, Salmin P, Esposito S, Milani D. Tucci A, et al. BMC Med Genet. 2016 Mar 11;17:22. doi: 10.1186/s12881-016-0287-1. BMC Med Genet. 2016. PMID: 26969503 Free PMC article.
BACKGROUND: Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic disorder caused by mutations in the DHCR7 gene. SLOS is characterized by a plethora of abnormalities involving mainly the brain and the genitalia but also the cardiac, …
BACKGROUND: Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic disorder caused by mutations in the DHCR7 ge …
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V. Orrico A, et al. Am J Med Genet A. 2010 Feb;152A(2):313-8. doi: 10.1002/ajmg.a.33199. Am J Med Genet A. 2010. PMID: 20082460
Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum …
Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an …